http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#head http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#assertion http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#provenance http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#assertion http://rdf.disgenet.org/resource/gda/DGN19e090818bf51a28959137c8fdbc5f95 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5664 http://rdf.disgenet.org/resource/gda/DGN19e090818bf51a28959137c8fdbc5f95 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0276496 http://rdf.disgenet.org/resource/gda/DGN19e090818bf51a28959137c8fdbc5f95 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#provenance http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#assertion http://purl.org/dc/terms/description [We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM2 (Presenilin 2: PS-2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7550356 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/dc/terms/created 2017-10-17T13:15:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP868168.RAYh6I9kzKqbiYvCM-HvzxJX05cPTdLGkP3cEu4fACveE http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0